Hmgcl^tm2Gam
Targeted Allele Detail

Summary

• Symbol: Hmgcl^tm2Gam
• Name: 3-hydroxy-3-methylglutaryl-Coenzyme A lyase; targeted mutation 2, Grant A Mitchell
• MGI ID: MGI:5538619
• Synonyms: HL^L
• Gene: Hmgcl Location: Chr4:135673759-135689928 bp, + strand Genetic Position: Chr4, 68.14 cM
• Alliance: Hmgcl^tm2Gam page

The leucine metabolite 2-ketoisocaproate induces liver steatosis in Hmgcl^tm2Gam/Hmgcl^tm2Gam Speer6-ps1^{Tg(Alb-cre)21Mgn}/0 mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:204294
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

Allele Type: Targeted (Conditional ready, No functional change) Mutation: Insertion Mutation details: A neomycin resistance cassette with a 5' loxP site was inserted upstream of exon 2. An additional loxP site was inserted downstream of exon 2. (J:204294)

Generation of the Hmgcl^tm2Gam allele

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Hmgcl Mutation: 15 strains or lines available

References

• Original: J:204294 Gauthier N, et al., A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. PLoS One. 2013;8(7):e60581
• All: 2 reference(s)